An interesting case of pachydermoperiostosis with idiopathic myelofibrosis associated with monosomy 22

A 24‐year‐old man was referred to our clinic in August 2003 with complaints of weakness, dizziness, and bilateral knee pain of 3 years’ duration. Bilateral digital clubbing had been found on routine physical examination during his military service 4 years earlier. There were no cardiorespiratory or abdominal symptoms. There was no compromise in the activities of everyday life. The patient was not a chronic smoker. In the family history of the patient, his brother had been diagnosed with pachydermoperiostosis in another center 2 years earlier, but did not return to the hospital for a follow‐up investigation of myelofibrosis. On physical examination, the patient showed marked drumstick clubbing of the hands (Fig. 1), and a pale general appearance. The causes of digital clubbing are shown in Table 1 (Fawcett RS, Linford S, Stulberg DL. Nail abnormalities: clues to systemic disease. Am Fam Physician 2004; 69: 1417–1424). Deep nasolabial folds were seen on the face. Skin hypertrophy, cutis verticis gyrata, and seborrhea on the face were also observed. The patient also complained of hyperhidrosis. Examination of the cardiovascular system was normal. There was bilateral swelling of the ankle and knee (Fig. 2). Hepatosplenomegaly was found on abdominal examination. 1 Clinical photograph of the patient showing drumstick clubbing of the hands 1 Diseases associated with digital clubbing Causes of idiopathic or primary clubbing include pachydermoperiostosis Causes of secondary clubbing include the following: 1. Pulmonary disease: lung cancer, cystic fibrosis, interstitial lung disease, idiopathic pulmonary fibrosis, sarcoidosis 2. Cardiac disease: cyanotic congenital heart disease, other causes of right‐to‐left shunting, bacterial endocarditis 3. Gastrointestinal disease: ulcerative colitis, Crohn’s disease, cirrhosis of the liver, leiomyoma of the esophagus, achalasia 4. Skin disease: pachydermoperiostosis, Bureau–Barrière–Thomas syndrome, Fischer syndrome, palmoplantar keratoderma, Volavsek syndrome 5. Malignancies: non‐small‐cell lung cancer, thyroid cancer, thymus cancer, Hodgkin’s disease, disseminated chronic myeloid leukemia 6. Miscellaneous conditions: acromegaly, thyroid acropachy, pregnancy, unusual complication of severe secondary hyperparathyroidism 2 Bilateral swelling of the knee Investigations showed hypochromic microcytic anemia [hemoglobin, 8.58 g/dL (normal, 12.2–18.1 g/dL); hematocrit, 28.1% (normal, 37.7–53.7%); white blood cell count, 3430/mm